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Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects

✍ Scribed by Anne Parle-McDermott; James L. Mills; Peadar N. Kirke; Valerie B. O'Leary; Deborah A. Swanson; Faith Pangilinan; Mary Conley; Anne M. Molloy; Christopher Cox; John M. Scott; Lawrence C. Brody


Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
171 KB
Volume
48
Category
Article
ISSN
1435-232X

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A number of studies have demonstrated that the common polymorphism 677C→T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent